Central nervous system lymphoma: magnetic resonance imaging features at presentation.

OBJECTIVE: This paper aimed at studying presentations of the central nervous system (CNS) lymphoma using structural images obtained by magnetic resonance imaging (MRI). METHODS: The MRI features at presentation of 15 patients diagnosed with CNS lymphoma in a university hospital, between January 1999 and March 2011, were analyzed by frequency and cross tabulation. RESULTS: All patients had supratentorial lesions; and four had infra- and supratentorial lesions. The signal intensity on T1 and T2 weighted images was predominantly hypo- or isointense. In the T2 weighted images, single lesions were associated with a hypointense signal component. Six patients presented necrosis, all of them showed perilesional abnormal white matter, nine had meningeal involvement, and five had subependymal spread. Subependymal spread and meningeal involvement tended to occur in younger patients. CONCLUSION: Presentations of lymphoma are very pleomorphic, but some of them should point to this diagnostic possibility.

Central nervous system lymphoma: magnetic resonance imaging features at presentation / Linfoma do sistema nervoso central: características da imagem de ressonância magnética à apresentação

OBJECTIVE: This paper aimed at studying presentations of the central nervous system (CNS) lymphoma using structural images obtained by magnetic resonance imaging (MRI). METHODS: The MRI features at presentation of 15 patients diagnosed with CNS lymphoma in a university hospital, between January 1999 and March 2011, were analyzed by frequency and cross tabulation. RESULTS: All patients had supratentorial lesions; and four had infra- and supratentorial lesions. The signal intensity on T1 and T2 weighted images was predominantly hypo- or isointense. In the T2 weighted images, single lesions were associated with a hypointense signal component. Six patients presented necrosis, all of them showed perilesional abnormal white matter, nine had meningeal involvement, and five had subependymal spread. Subependymal spread and meningeal involvement tended to occur in younger patients. CONCLUSION: Presentations of lymphoma are very pleomorphic, but some of them should point to this diagnostic possibility.

OBJETIVO: Este trabalho teve como objetivo estudar as apresentações do linfoma do sistema nervoso central (SNC) por meio de imagens estruturais, obtidas por ressonância magnética (RM). MÉTODOS: Foram analisadas as características das imagens por RM, à apresentação, de 15 pacientes diagnosticados com linfoma do SNC em um hospital universitário, entre janeiro de 1999 e março de 2011, pela frequência e por tabulação cruzada. RESULTADOS: Todos os pacientes apresentaram lesões supratentoriais; em quatro (27 por cento) havia lesões infra e supratentoriais. A intensidade do sinal em T1 e T2 foi predominantemente hipo ou isointensa. Lesões únicas foram associadas ao componente de sinal hipointenso nas imagens ponderadas em T2. Seis pacientes apresentaram necrose. Foram encontrados: alteração de sinal da substância branca perilesional em todos os pacientes, acometimento meníngeo em nove e disseminação subependimária em cinco. Disseminação subependimária e acometimento meníngeo tenderam a ocorrer nos pacientes mais jovens. CONCLUSÃO: As apresentações do linfoma no SNC são pleomórficas, mas algumas delas podem apontar para essa possibilidade diagnóstica.

Myositis with sensory neuronopathy.

Inflammatory myopathies (IM) are a heterogeneous group of diseases characterized by immune-mediated damage to skeletal muscle. Sensory abnormalities are rare in patients with IM. We report two patients, one with dermatomyositis and the other with inclusion-body myositis, who presented with unexpected sensory abnormalities due to probable immune-mediated damage to dorsal root ganglia. We emphasize the importance of combined neuroimaging and neurophysiological assessment for proper diagnosis.

Dissemination patterns of pilocytic astrocytoma.

Two patients with multifocal pilocytic astrocytoma diagnosed by magnetic resonance imaging (MRI) and confirmed by histopathological examination are reported. They presented distinct sites and mechanisms of metastasis: to distant ventricles through the cerebral spinal fluid (CSF) in patient 1 and to contralateral parenchyma, possibly through white matter tracts, in patient 2, a pathway not so far reported in pilocytic astrocytoma. Early detection of multifocal pilocytic astrocytoma by MRI may change treatment strategies and improve prognosis.

Central neurocytoma: report of two cases

INTRODUÇÃO: Neurocitoma central é um tumor neuroectodérmico raro, geralmente localizado nos ventrículos laterais. RELATO DE CASOS: Uma mulher de 26 anos e um homem de 33 anos apresentaram-se com hipertensão intracraniana. Exames de imagem revelaram tumor intraventricular heterogêneo, que impregnava por contraste, ocupando os ventrículos laterais e causando hidrocefalia. A mulher faleceu no pós-operatório e o homem está livre de recidiva após três anos. HISTOPATOLOGIA: Ambos os tumores eram sólidos, com células arredondadas, lembrando oligodendroglia, positivas para sinaptofisina, cromogranina e NSE e algumas para GFAP, vimentina e proteína S-100. Microscopia eletrônica mostrou neurópilo entre os corpos celulares, mas sinapses eram raras.

Immunophenotypic and ultrastructural validation of a new human glioblastoma cell line.

1. A human glioma cell line, NG97, was established by Grippo et al. in 2001 from tissue obtained from a grade III astrocytoma (WHO, 2000). In this first study, the cell line grew as two morphologically distinct subpopulations: dendritic/spindle cells and small round cells. The injection of NG97 cells into nude mice induced an aggressive tumor characterized by: severe cytological atypia, vascular proliferation and pseudopalisading necrosis (glioblastoma multiforme features). 2. The purpose of the present study was to characterize the immunophenotype and ultrastructural aspects of this cell line, using the parental tumor, cultured cells and the xenotransplant, in order to assess its glial nature and possible divergent differentiation. 3. NG97 cells and xenotransplant expressed the main neuroglial markers (GFAP, S-100 protein, NSE and Leu-7) and showed no aberrant expression of other histogenetic markers. GFAP was similarly expressed in the parental tumor and in the cells in culture, but decreased in the xenotransplant. NSE expression was reduced in NG97 cells, but substantially recovered in the xenotransplant. This variability in expression of GFAP and NSE was interpreted as either a phenomenon of dedifferentiation or to microenvironmental selection of specific subclones. S-100 was equally expressed in the three contexts. The xenotransplant's ultrastructural features were those of a highly undifferentiated tumor. No significant immunophenotypic or ultrastructural differences between the two morphologically distinct populations were found. 4. Thus, our data demonstrate that NG97 cells constitute a pure glial-committed cell line, which may prove useful as a malignant glioma model in studies addressing pathophysiological, diagnostic and therapeutic issues.

Central neurocytoma: report of two cases.

INTRODUCTION: Central neurocytomas are rare neuroectodermal tumors believed to arise from the subependymal matrix of the lateral ventricles. CASE REPORTS: A 26-year-old woman and a 33-year-old man each had a large, heterogeneous, contrast enhancing mass in the lateral ventricles at the foramen of Monro causing bilateral hydrocephalus. The woman died after surgery, but the man is asymptomatic after three years. HISTOPATHOLOGY: Both tumors were composed of isomorphic rounded cells positive for synaptophysin, chromogranin and NSE, while some reacted for GFAP, vimentin and S-100 protein. Electron microscopy revealed neuropil-like tissue between cells, but synapses were rare.

Multi-minicore disease revisited.

Multi-minicore disease (MmD) is an infrequent congenital myopathy, defined by structural changes in optic and electron microscopy, namely, multiple small areas lacking oxidative enzyme activity and focal disorganization of contractile proteins involving at most a few sarcomeres. The classical form of the disease manifests as more or less severe hypotonia and generalized weakness with predominance in axial and proximal limb muscles. Clinical variants also exist. Usually MmD is inherited as an autosomal recessive trait. Genetic heterogeneity is recognized and up to now mutations in the genes of RYR1 and SEPN1 have been detected. We record three unrelated cases of MmD. Case 1, with the classical benign form, was followed-up for 15 years. Case 2, presenting pharyngolaryngeal involvement and severe delay of head control, improved gradually, until independent gait was acquired at age of six years. A moderate restriction of daily life activities remains. Case 3, of antenatal-onset, was expressed by arthrogryposis of hands, predominance of scapular girdle deficit and a stable course after ten years on physiotherapy. All cases were selected by the characteristic morphological abnormalities in biceps brachii samples, including electron microscopy. Emphasis is given to case 2 due to type 1 fiber uniformity and mild endomysial fibrosis, posing a difficult differential diagnosis with congenital muscular dystrophy were it not for the significant number of multi-minicores.

Multi-minicore disease revisited

A miopatia dos múltiplos minifocos (MM) é doença congênita rara, definida por alterações estruturais observadas ao microscópio óptico e eletrônico: múltiplas e pequenas áreas sem atividade enzimática oxidativa e desorganização focal das proteínas contráteis envolvendo poucos sarcômeros. A forma clássica da doença se manifesta com hipotonia mais ou menos grave e fraqueza generalizada, predominante em músculos axiais e proximais em membros. Entretanto, variantes clínicas existem. A MM é usualmente herdada como traço autossômico recessivo. Heterogeneidade genética tem sido reconhecida e até o momento mutações nos genes RYR1 e SEPN1 foram detectadas. Relatamos três casos de MM. Caso 1, que tem a forma clássica e benigna da doença, assim permaneceu ao longo de 15 anos. Caso 2 apresentou envolvimento faringo-laríngeo e grave atraso no controle cefálico que melhorou gradualmente, até que a deambulação plena foi adquirida aos seis anos; permanece com moderada limitação das atividades da vida diária. Caso 3 teve início pré-natal, expresso através de artrogripose das mãos. Havia predominância de déficit em cintura escapular e o curso tem sido estável, com fisioterapia, por 10 anos. Os casos foram selecionados pelas características morfológicas na biópsia do biceps braquial que incluiu microscopia eletrônica. Enfatizamos, no caso 2, a uniformidade das fibras do tipo 1 e a leve fibrose do endomísio, tendo sido necessário o diagnóstico diferencial com distrofia muscular congênita.

Whipple's disease with neurological manifestations: case report.

Whipple's disease (WD) is an uncommon multisystem condition caused by the bacillus Tropheryma whipplei. Central nervous system involvement is a classical feature of the disease observed in 20 to 40% of the patients. We report the case of a 62 year old man with WD that developed neurological manifestations during its course, and discuss the most usual signs and symptoms focusing on recent diagnostic criteria and novel treatment regimens.

Whipple's disease with neurological manifestions: case report

A doença de Whipple (DW) é distúrbio multissistêmico raro causado pelo bacilo Tropheryma whipplei. O envolvimento do sistema nervoso central é um aspecto clássico da doença, sendo observado em 20 a 40% dos pacientes. Relatamos o caso de homem de 62 anos com DW que desenvolveu manifestações neurológicas durante sua evolução, com o objetivo de discutir os sinais e sintomas mais comuns e destacar os critérios diagnósticos e propostas terapêuticas mais recentes.

Gangliocytoma, a surgically treatable cause of drug resistant early onset partial epilepsy

Paciente de 20 anos de idade apresentava crises parciais simples sensitivo-motoras com início na perna direita desde os 4 anos. As crises ocorriam pelo menos uma vez por semana e eram refratárias a drogas antiepilépticas. Crises secundariamente generalizadas eram infrequentes. EEGs interictais mostravam espículas centro-parietais máximas na linha média. EEGs letais registraram atividade teta rítmica nas regiões parasagitais, sem lateralização. Ressonãncia magnética mostrou uma lesão na porção medial do lobo parietal esquerdo, isointensa ao córtex em imagens ponderadas em T1 e hiperintensa em imagens T2. Foi realizada a ressecção cirúrgica completa da lesão, guiada por eletrocorticografia. Histopatologia demonstrou um gangliocitoma, uma causa pouco frequente, cirurgicamente tratável, de epilepsia parcial resistente ao tratamento medicamentoso

Outcome of surgical treatment in familial mesial temporal lobe epilepsy.

PURPOSE: To describe postoperative outcome in patients with familial mesial temporal lobe epilepsy (FMTLE). METHODS: We studied FMTLE patients who underwent surgical treatment for refractory seizures. FMTLE was defined when at least two individuals in a family had a clinical EEG diagnosis of MTLE. Preoperative investigation included magnetic resonance imaging (MRI), interictal/ictal EEGs, and neuropsychological evaluation. We used Engel's classification for postoperative outcome. RESULTS: To date, 20 FMTLE patients have been operated on, with 1.6 to 9.8 years of follow-up (mean, 5.5 years). Hippocampal atrophy (HA) and other signs of mesial temporal sclerosis (MTS) were present in 18 patients (15 unilateral). Seizures were recorded in 19 patients. Seventeen (85%) patients are in class I. Two patients had normal hippocampal volumes (HcV): one (5%) is in class II and the other (5%) in class IV (extratemporal seizures developed after surgery). One (5%) patient had bilateral HA and is in class III. Qualitative histopathology showed MTS with different degrees of severity. CONCLUSIONS: Refractory FMTLE patients have good surgical outcome when unilateral or clearly asymmetric HA is identified. Preoperative investigation should be the same as that in patients with sporadic refractory MTLE.

Orbital apex syndrome due to aspergillosis: case report

We report the case of a 73-year-old female who presented facial numbness and pain in the first division of the trigeminal nerve, ptosis, diplopia and visual loss on the right side for the previous four months. The neurological, radiological and histological examination demonstrated a rare case of invasive fungal aspergillosis of the central nervous system, causing orbital apex syndrome, later transformed in temporal brain abscess. She died ten months later due to respiratory and renal failure in spite of specific antimycotic therapy